Incidental Mutation 'IGL00572:Sp140'
ID 332662
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sp140
Ensembl Gene ENSMUSG00000070031
Gene Name Sp140 nuclear body protein
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.101) question?
Stock # IGL00572
Quality Score
Status
Chromosome 1
Chromosomal Location 85600378-85645037 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 85621672 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Lysine at position 208 (R208K)
Ref Sequence ENSEMBL: ENSMUSP00000079095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080204]
AlphaFold Q6NSQ5
Predicted Effect probably benign
Transcript: ENSMUST00000080204
AA Change: R208K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000079095
Gene: ENSMUSG00000070031
AA Change: R208K

DomainStartEndE-ValueType
Pfam:Sp100 24 121 5.1e-40 PFAM
low complexity region 213 223 N/A INTRINSIC
low complexity region 240 248 N/A INTRINSIC
SAND 256 329 4.17e-34 SMART
PHD 360 402 3.7e-8 SMART
BROMO 423 526 4.49e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162925
AA Change: R111K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000123756
Gene: ENSMUSG00000070031
AA Change: R111K

DomainStartEndE-ValueType
low complexity region 117 127 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SP100 family of proteins, which are share common domains including an N-terminal homogeneously staining region domain followed by a SP100/autoimmune regulator/NucP41/P75/deformed epidermal autoregulatory factor domain, a plant homeobox zinc finger, and a bromodomain. The encoded protein is interferon-inducible and is expressed at high levels in the nuclei of leukocytes. Variants of this gene have been associated with multiple sclerosis, Crohn's disease, and chronic lymphocytic leukemia. Alternative splicing results in multiple variants. [provided by RefSeq, Aug 2016]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre4 A G 17: 55,820,648 I563V probably benign Het
Adgrl2 A G 3: 148,826,498 L1033P probably damaging Het
Aqr A C 2: 114,125,942 I840M possibly damaging Het
Bmper G A 9: 23,406,527 V481M probably damaging Het
Chd8 T C 14: 52,226,138 E683G probably damaging Het
Cpn1 A G 19: 43,963,829 V338A probably damaging Het
Cs A G 10: 128,360,964 probably benign Het
Gm4540 C T 3: 106,034,807 probably benign Het
Gm884 A G 11: 103,615,410 F1911L probably benign Het
Hdc A G 2: 126,601,872 F296L probably benign Het
Helt T C 8: 46,293,522 E32G probably damaging Het
Hivep1 C T 13: 42,158,871 A1529V probably benign Het
Klk1b4 A T 7: 44,210,774 H104L possibly damaging Het
Ncf2 C A 1: 152,808,174 T48N possibly damaging Het
Phkg1 G A 5: 129,865,073 Q274* probably null Het
Slc1a2 A G 2: 102,777,576 D520G possibly damaging Het
Slc25a10 G T 11: 120,497,107 probably null Het
Slc8a1 A T 17: 81,388,726 S960T probably damaging Het
St7 A G 6: 17,855,006 E245G probably damaging Het
Sypl T A 12: 32,954,294 S2T probably damaging Het
Tbx20 T C 9: 24,725,688 T368A probably benign Het
Tmem126a T C 7: 90,450,832 T168A probably benign Het
Ttn T C 2: 76,746,590 D24653G probably damaging Het
Ttn A G 2: 76,946,979 S1360P probably damaging Het
Uggt2 A T 14: 119,042,791 F282L probably benign Het
Usp36 A T 11: 118,264,820 N875K possibly damaging Het
Usp9x C A X: 13,125,576 H869N probably benign Het
Xpnpep1 T C 19: 53,010,148 E223G probably benign Het
Zfp729a G A 13: 67,619,321 P930S probably benign Het
Zscan10 G A 17: 23,609,461 V216M probably damaging Het
Other mutations in Sp140
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Sp140 APN 1 85641822 nonsense probably null
IGL00561:Sp140 APN 1 85621672 missense probably benign 0.00
IGL00591:Sp140 APN 1 85621672 missense probably benign 0.00
IGL00990:Sp140 APN 1 85626165 missense possibly damaging 0.59
IGL00990:Sp140 APN 1 85626133 missense probably benign 0.00
IGL02106:Sp140 APN 1 85643219 missense probably benign 0.01
IGL02303:Sp140 APN 1 85643009 nonsense probably null
PIT4131001:Sp140 UTSW 1 85601172 missense probably benign 0.03
PIT4131001:Sp140 UTSW 1 85610882 missense probably benign 0.03
PIT4131001:Sp140 UTSW 1 85643221 missense probably benign
PIT4142001:Sp140 UTSW 1 85601172 missense probably benign 0.03
PIT4142001:Sp140 UTSW 1 85610882 missense probably benign 0.03
PIT4142001:Sp140 UTSW 1 85643221 missense probably benign
R0378:Sp140 UTSW 1 85620051 splice site probably benign
R0815:Sp140 UTSW 1 85620051 splice site probably benign
R1320:Sp140 UTSW 1 85635608 critical splice donor site probably null
R1642:Sp140 UTSW 1 85610824 splice site probably null
R1791:Sp140 UTSW 1 85620051 splice site probably benign
R4776:Sp140 UTSW 1 85610828 missense possibly damaging 0.46
R4780:Sp140 UTSW 1 85610828 missense possibly damaging 0.46
R4839:Sp140 UTSW 1 85610808 unclassified probably benign
R5051:Sp140 UTSW 1 85610828 missense possibly damaging 0.46
R5287:Sp140 UTSW 1 85610824 splice site probably null
R5379:Sp140 UTSW 1 85610828 missense possibly damaging 0.46
R6518:Sp140 UTSW 1 85644570 critical splice acceptor site probably benign
R7125:Sp140 UTSW 1 85644569 critical splice acceptor site probably benign
R7128:Sp140 UTSW 1 85620125 missense possibly damaging 0.63
R7785:Sp140 UTSW 1 85620098 missense probably benign 0.00
R8033:Sp140 UTSW 1 85620094 missense probably benign 0.01
R8481:Sp140 UTSW 1 85641791 missense probably damaging 0.99
R8501:Sp140 UTSW 1 85641740 missense probably damaging 1.00
R8830:Sp140 UTSW 1 85644574 critical splice acceptor site probably benign
R8994:Sp140 UTSW 1 85621882 splice site probably null
R9053:Sp140 UTSW 1 85644569 critical splice acceptor site probably benign
R9137:Sp140 UTSW 1 85642576 missense probably damaging 0.99
R9594:Sp140 UTSW 1 85632514 missense possibly damaging 0.50
Z1191:Sp140 UTSW 1 85641803 missense probably damaging 0.96
Posted On 2015-08-05